| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.69 | FBXO31 | Bryony Thompson Marked gene: FBXO31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.69 | FBXO31 | Bryony Thompson Gene: fbxo31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.69 | FBXO31 | Bryony Thompson Classified gene: FBXO31 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.69 | FBXO31 | Bryony Thompson Gene: fbxo31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.68 | FBXO31 |
Bryony Thompson gene: FBXO31 was added gene: FBXO31 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: FBXO31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO31 were set to 41858232; 33675180 Phenotypes for gene: FBXO31 were set to cerebral palsy, MONDO:0006497 Review for gene: FBXO31 was set to GREEN Added comment: PMID 33675180 reports three individuals from three families, and PMID 41858232 adds four new individuals (a total of seven unrelated families) with heterozygous de novo FBXO31 c.1000G>A (p.Asp334Asn) missense variants causing a spastic‑dystonic cerebral palsy syndrome characterised by early‑onset spasticity/dystonia, developmental delay, intellectual disability and speech impairment. The variant is absent from gnomAD; functional assays indicate a neomorphic gain‑of‑function effect. Sources: Literature |
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